Particularities and limitations of kinesiotherapy in genetic disorders and their medical recovery – Russell-Silver Syndrome: a case report
Particularities and limitations of kinesiotherapy in genetic disorders and their medical recovery – Russell-Silver Syndrome: a case report

Summary/Abstract: While some authors still separate the Russell-Silver syndrome as two independent disorders, it is presently considered as one whole entity. It is a rare syndrome, with over 400 reported cases (1). The first reported cases were in children with the syndrome’s characteristic facial features, low birth weight, body asymmetry, and poor growth after birth (2), growth failure being the primary abnormality (3). Patients typically present with intrauterine growth retardation, difficulty feeding, failure to thrive, or postnatal growth failure (4, 5). The clinical features are more evident in infants or young children (6).Methods. We present a 19-month-old girl, admitted to our hospital for functional rehabilitation due to mildly severe neuromotor retardation, associated with severe malnutrition, low body weight, congenital heart malformation and gastroesophageal reflux. We evaluated the child and her motion of joints and strength of muscles using, among other tests, the Gross Motor Function Measure (GMFM) scale. She underwent a kinesiotherapy program in order to enhance and rise her motor skills according to her chronological age.Results. For one year, rehabilitation treatment improved muscle tone, motor skills, posture and spine alignment. Also, a specific kinesiotherapy program at home resulted in a systematic improvement in growth and development in this case. Conclusions. Genetic anomalies are always a challenge for therapists. An early intervention program, in this particular case, is highly beneficial.

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